Canonical Allele Identifier: CA2573150453

Gene: BCL11B

Linked Data

• ClinVar Variation Id: 1423766
• ClinVar RCV Id: RCV001954890
• dbSNP Id: rs2139753451

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99174495_99174496delinsGA , CM000676.2:g.99174495_99174496delinsGA	GRCh38
NC_000014.8:g.99640832_99640833delinsGA , CM000676.1:g.99640832_99640833delinsGA	GRCh37
NC_000014.7:g.98710585_98710586delinsGA	NCBI36
NG_027894.1:g.101990_101991delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357195.8:c.2340_2341delinsTC MANE Select	ENSP00000349723.3:p.Gly781Arg
ENST00000345514.2:c.2127_2128delinsTC	ENSP00000280435.6:p.Gly710Arg
ENST00000357195.7:c.2340_2341delinsTC	ENSP00000349723.3:p.Gly781Arg
ENST00000443726.2:c.1758_1759delinsTC	ENSP00000387419.2:p.Gly587Arg
NM_001282237.1:c.2337_2338delinsTC	NP_001269166.1:p.Gly780Arg
NM_001282238.1:c.2124_2125delinsTC	NP_001269167.1:p.Gly709Arg
NM_022898.2:c.2127_2128delinsTC	NP_075049.1:p.Gly710Arg
NM_138576.3:c.2340_2341delinsTC	NP_612808.1:p.Gly781Arg
XM_011537100.1:c.2202_2203delinsTC	XP_011535402.1:p.Gly735Arg
NM_138576.4:c.2340_2341delinsTC MANE Select	NP_612808.1:p.Gly781Arg
NM_001282237.2:c.2337_2338delinsTC	NP_001269166.1:p.Gly780Arg
NM_001282238.2:c.2124_2125delinsTC	NP_001269167.1:p.Gly709Arg
NM_022898.3:c.2127_2128delinsTC	NP_075049.1:p.Gly710Arg